Molybdenum cofactor deficiency

Molybdenum cofactor deficiency is a genetic disorder characterized by a lack of functional molybdenum cofactor, resulting in symptoms such as tonic-clonic seizures, poor feeding, variable facial dysmorphic signs, and cystic leukoencephalopathy. Treatment involves substitution with purified cyclic pyranopterin monophosphate cPMP.From: Neonatal seizures treatment based on conventional multichannel EEG monitoring: an overview of therapeutic options [2022]

Ophthalmology

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Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019

Ken K. Nischal

Dislocated lens may be seen in systemic associations such as Marfan (Fig. 7.32) (fibrillin gene mutation spectrum), Weil–Marchesani, Ehlers–Danlos, Stickler, Kniest syndromes, mandibulofacial dysostosis and osteogenesis imperfecta. Metabolic disorders include homocystinuria, hyperlysinemia and molybdenum cofactor deficiency (including sulfite oxidase deficiency).

Neonatal seizures treatment based on conventional multichannel EEG monitoring: an overview of therapeutic options

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Published in Expert Review of Neurotherapeutics, 2022

Isotta Guidotti, Licia Lugli, Luca Ori, Maria Federica Roversi, Elisa Della Casa Muttini, Luca Bedetti, Marisa Pugliese, Francesca Cavalleri, Francesca Stefanelli, Fabrizio Ferrari, Alberto Berardi

Patients with molybdenum cofactor deficiency type A, showing tonic–clonic seizures, poor feeding, variable facial dysmorphic signs, and evolution to cystic leukoencephalopathy, have been treated with substitution with purified cyclic pyranopterin monophosphate cPMP [103].

Molybdenum cofactor deficiency

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Ophthalmology

Neonatal seizures treatment based on conventional multichannel EEG monitoring: an overview of therapeutic options